{
  "url": "https://dantelabs.com/no/genes/tcf4",
  "gene": {
    "slug": "tcf4",
    "symbol": "TCF4",
    "name": "transcription factor 4",
    "hgnc": "HGNC:11634",
    "summary": null,
    "location": "18q21.2",
    "locusType": "gene with protein product",
    "aliases": [
      "SEF2-1B",
      "ITF2",
      "bHLHb19",
      "E2-2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000196628",
    "entrezId": 6925,
    "omim": [
      "602272"
    ],
    "uniprot": [
      "P15884"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 55222185,
      "end": 55588192,
      "strand": "-",
      "ensemblTranscript": "ENST00000354452.8",
      "refseqTranscript": "NM_001083962.2",
      "ensemblProtein": "ENSP00000346440.3",
      "refseqProtein": "NP_001077431.1",
      "exons": [
        {
          "start": 55222185,
          "end": 55228030
        },
        {
          "start": 55228221,
          "end": 55228361
        },
        {
          "start": 55228847,
          "end": 55229076
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        {
          "start": 55232509,
          "end": 55232671
        },
        {
          "start": 55234548,
          "end": 55234683
        },
        {
          "start": 55254497,
          "end": 55254700
        },
        {
          "start": 55257315,
          "end": 55257391
        },
        {
          "start": 55259949,
          "end": 55260027
        },
        {
          "start": 55261466,
          "end": 55261533
        },
        {
          "start": 55269831,
          "end": 55269963
        },
        {
          "start": 55275619,
          "end": 55275752
        },
        {
          "start": 55279551,
          "end": 55279656
        },
        {
          "start": 55350359,
          "end": 55350408
        },
        {
          "start": 55350874,
          "end": 55351003
        },
        {
          "start": 55403454,
          "end": 55403518
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        {
          "start": 55461019,
          "end": 55461115
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        {
          "start": 55464076,
          "end": 55464137
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        {
          "start": 55585280,
          "end": 55585352
        },
        {
          "start": 55587045,
          "end": 55587136
        },
        {
          "start": 55588038,
          "end": 55588192
        }
      ],
      "cds": {
        "start": 55228225,
        "end": 55587116
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 52889562,
      "end": 53332018,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 54856177,
      "end": 55954200,
      "genes": [
        {
          "symbol": "RAB27B",
          "ensemblId": "ENSG00000041353",
          "biotype": "protein_coding",
          "start": 54717857,
          "end": 54895516,
          "strand": "+",
          "slug": "rab27b"
        },
        {
          "symbol": "CCDC68",
          "ensemblId": "ENSG00000166510",
          "biotype": "protein_coding",
          "start": 54901027,
          "end": 54959519,
          "strand": "-",
          "slug": "ccdc68"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-corneal-dystrophies",
        "name": "Arvelige hornhinnedystrofier",
        "diseases": [
          {
            "mondoId": "MONDO:0018102",
            "name": "Hornhinnedystrofi",
            "genes": 19,
            "inheritance": null,
            "description": "En gruppe arvelige tilstander som rammer ett eller flere lag av hornhinnen, blant annet Fuchs endotelial dystrofi (ofte knyttet til en TCF4-repetisjonsekspansjon), TGFBI-relaterte granulær- og gitterdystrofi, og sjeldnere typer forårsaket av gener som SLC4A11, COL8A2, ZEB1 og CHST6.",
            "management": "Bærere av TGFBI-varianter får generelt råd om å unngå laserkirurgi for refraksjonsfeil (LASIK eller PRK), som kan forverre avleiringene. Hornhinnetransplantasjon kan gjenopprette synet ved avansert sykdom.",
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/hereditary-corneal-dystrophies"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellektuell funksjonsnedsettelse",
        "diseases": [
          {
            "mondoId": "MONDO:0012589",
            "name": "Pitt-Hopkins-syndrom",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "En tilstand forårsaket av varianter i TCF4, som gir intellektuell funksjonsnedsettelse, pustereguleringsforstyrrelser og karakteristiske ansiktstrekk.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-biliary-tract-morphology",
        "name": "Abnormal biliary tract morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-biliary-tract-morphology"
      },
      {
        "slug": "abnormal-corneal-endothelium-morphology",
        "name": "Abnormal corneal endothelium morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-corneal-endothelium-morphology"
      },
      {
        "slug": "tooth-malposition",
        "name": "Abnormal dental position",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tooth-malposition"
      },
      {
        "slug": "abnormal-descemet-membrane-morphology",
        "name": "Abnormal Descemet membrane morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-descemet-membrane-morphology"
      },
      {
        "slug": "abnormal-eosinophil-morphology",
        "name": "Abnormal eosinophil morphology",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-eosinophil-morphology"
      },
      {
        "slug": "abnormal-helix-morphology",
        "name": "Abnormal helix morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-helix-morphology"
      },
      {
        "slug": "abnormal-large-intestine-physiology",
        "name": "Abnormal large intestine physiology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-large-intestine-physiology"
      },
      {
        "slug": "abnormal-pattern-of-respiration",
        "name": "Abnormal pattern of respiration",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pattern-of-respiration"
      },
      {
        "slug": "abnormal-palate-morphology",
        "name": "Abnormality of the palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-palate-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "supernumerary-nipple",
        "name": "Accessory nipple",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supernumerary-nipple"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "acute-hepatic-failure",
        "name": "Acute liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/acute-hepatic-failure"
      },
      {
        "slug": "adenocarcinoma-of-the-large-intestine",
        "name": "Adenocarcinoma of the large intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/adenocarcinoma-of-the-large-intestine"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "amyloid-deposition",
        "name": "Amyloid deposition",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/amyloid-deposition"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-corpus-callosum",
        "name": "Aplasia/Hypoplasia of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "cholangiocarcinoma",
        "name": "Bile duct cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cholangiocarcinoma"
      },
      {
        "slug": "broad-fingertip",
        "name": "Broad fingertip",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/broad-fingertip"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "celiac-disease",
        "name": "Celiac disease",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/celiac-disease"
      },
      {
        "slug": "chronic-hepatic-failure",
        "name": "Chronic liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-hepatic-failure"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "clubbing",
        "name": "Clubbing of fingers and toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clubbing"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "corneal-guttata",
        "name": "Corneal guttata",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/corneal-guttata"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "corneal-stromal-edema",
        "name": "Corneal stromal edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/corneal-stromal-edema"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cupped-ear",
        "name": "Cupped ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/cupped-ear"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "finger-clinodactyly",
        "name": "Curvature of finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/finger-clinodactyly"
      },
      {
        "slug": "decreased-circulating-vitamin-k-concentration",
        "name": "Decreased circulating vitamin K concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-k-concentration"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "deep-philtrum",
        "name": "Deep philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/deep-philtrum"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "decreased-circulating-vitamin-d-concentration",
        "name": "Deficient in vitamin D",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-d-concentration"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "aphasia",
        "name": "Difficulty finding words",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aphasia"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "generalized-amyotrophy",
        "name": "Diffuse skeletal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-amyotrophy"
      },
      {
        "slug": "dilated-superficial-abdominal-veins",
        "name": "Dilated superficial abdominal veins",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilated-superficial-abdominal-veins"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "echolalia",
        "name": "Echoing another person's speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/echolalia"
      },
      {
        "slug": "elevated-alkaline-phosphatase-of-hepatic-origin",
        "name": "Elevated alkaline phosphatase of hepatic origin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-alkaline-phosphatase-of-hepatic-origin"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "eye-movement-induced-pain",
        "name": "Eye movement-induced pain",
        "systems": [
          "abnormality-of-the-eye",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eye-movement-induced-pain"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fetal-nuchal-edema",
        "name": "Fetal nuchal edema",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fetal-nuchal-edema"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "flared-nostrils",
        "name": "Flared nostrils",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flared-nostrils"
      },
      {
        "slug": "pleural-effusion",
        "name": "Fluid around lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pleural-effusion"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "frontal-upsweep-of-hair",
        "name": "Frontal upsweep of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frontal-upsweep-of-hair"
      },
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "slug": "thick-vermilion-border",
        "name": "Full lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thick-vermilion-border"
      },
      {
        "slug": "cholelithiasis",
        "name": "Gallstones",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "happy-demeanor",
        "name": "Happy demeanor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/happy-demeanor"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hepatocellular-carcinoma",
        "name": "Hepatocellular carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatocellular-carcinoma"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "histiocytosis",
        "name": "Histiocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/histiocytosis"
      },
      {
        "slug": "hodgkin-lymphoma",
        "name": "Hodgkin lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hodgkin-lymphoma"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "mutism",
        "name": "Inability to speak",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mutism"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "hyperconvex-nail",
        "name": "Increased nail curvature",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperconvex-nail"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "esophagitis",
        "name": "Inflammation of the esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/esophagitis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "intermittent-hyperventilation",
        "name": "Intermittent overbreathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intermittent-hyperventilation"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "narrow-foot",
        "name": "Narrow foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/narrow-foot"
      },
      {
        "slug": "narrow-forehead",
        "name": "Narrow forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/narrow-forehead"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "neoplasm-of-the-gallbladder",
        "name": "Neoplasm of the gallbladder",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-gallbladder"
      },
      {
        "slug": "open-mouth",
        "name": "Open mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/open-mouth"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "overhanging-nasal-tip",
        "name": "Overhanging nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/overhanging-nasal-tip"
      },
      {
        "slug": "overlapping-toe",
        "name": "Overlapping toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/overlapping-toe"
      },
      {
        "slug": "palmar-telangiectasia",
        "name": "Palmar telangiectasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palmar-telangiectasia"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "hypopigmented-skin-patches",
        "name": "Patchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypopigmented-skin-patches"
      },
      {
        "slug": "sleep-apnea",
        "name": "Pauses in breathing while sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-apnea"
      },
      {
        "slug": "acrocyanosis",
        "name": "Persistent blue color of hands or feet",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acrocyanosis"
      },
      {
        "slug": "pes-valgus",
        "name": "Pes valgus",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pes-valgus"
      },
      {
        "slug": "polyclonal-elevation-of-circulating-igm-concentration",
        "name": "Polyclonal elevation of circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polyclonal-elevation-of-circulating-igm-concentration"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "prominent-fingertip-pads",
        "name": "Prominent fingertip pads",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-fingertip-pads"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "hyperventilation",
        "name": "Rapid breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperventilation"
      },
      {
        "slug": "recurrent-systemic-pyogenic-infections",
        "name": "Recurrent systemic pyogenic infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-systemic-pyogenic-infections"
      },
      {
        "slug": "reduced-number-of-corneal-endothelial-cells",
        "name": "Reduced number of corneal endothelial cells",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-number-of-corneal-endothelial-cells"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "motor-stereotypy",
        "name": "Repetitive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-stereotypy"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "self-injurious-behavior",
        "name": "Self-injurious behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/self-injurious-behavior"
      },
      {
        "slug": "short-fourth-metatarsal",
        "name": "Short 4th long bone of foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-fourth-metatarsal"
      },
      {
        "slug": "short-fifth-metatarsal",
        "name": "Short 5th long bone of foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-fifth-metatarsal"
      },
      {
        "slug": "short-metatarsal",
        "name": "Short long bone of foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-metatarsal"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-palm",
        "name": "Short palm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-palm"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "short-philtrum",
        "name": "Short philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-philtrum"
      },
      {
        "slug": "single-transverse-palmar-crease",
        "name": "Single transverse palmar crease",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/single-transverse-palmar-crease"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "small-cerebral-cortex",
        "name": "Small cerebral cortex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-cerebral-cortex"
      },
      {
        "slug": "small-hand",
        "name": "Small hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-hand"
      },
      {
        "slug": "hypoplastic-hippocampus",
        "name": "Small hippocampus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-hippocampus"
      },
      {
        "slug": "sparse-medial-eyebrow",
        "name": "Sparse medial eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-medial-eyebrow"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "spider-hemangioma",
        "name": "Spider hemangioma",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spider-hemangioma"
      },
      {
        "slug": "sacral-dimple",
        "name": "Spinal dimple",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sacral-dimple"
      },
      {
        "slug": "hiatus-hernia",
        "name": "Stomach hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hiatus-hernia"
      },
      {
        "slug": "tapered-finger",
        "name": "Tapered finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tapered-finger"
      },
      {
        "slug": "thickened-helices",
        "name": "Thickened helices",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thickened-helices"
      },
      {
        "slug": "thyroiditis",
        "name": "Thyroid gland inflammation",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thyroiditis"
      },
      {
        "slug": "triangular-nasal-tip",
        "name": "Triangular nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/triangular-nasal-tip"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      },
      {
        "slug": "ulcerative-colitis",
        "name": "Ulcerative colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ulcerative-colitis"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "failure-of-eruption-of-permanent-teeth",
        "name": "Unerupted adult teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-of-eruption-of-permanent-teeth"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "uveitis",
        "name": "Uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/uveitis"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "reduced-circulating-vitamin-a-concentration",
        "name": "Vitamin A deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-circulating-vitamin-a-concentration"
      },
      {
        "slug": "decreased-circulating-vitamin-e-concentration",
        "name": "Vitamin E deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-e-concentration"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      },
      {
        "slug": "wide-mouth",
        "name": "Wide mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-mouth"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "widely-spaced-teeth",
        "name": "Widely spaced teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/widely-spaced-teeth"
      }
    ],
    "related": [
      {
        "slug": "chst6",
        "symbol": "CHST6",
        "name": "carbohydrate sulfotransferase 6",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/chst6"
      },
      {
        "slug": "col17a1",
        "symbol": "COL17A1",
        "name": "collagen type XVII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/col17a1"
      },
      {
        "slug": "col8a2",
        "symbol": "COL8A2",
        "name": "collagen type VIII alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/col8a2"
      },
      {
        "slug": "dcn",
        "symbol": "DCN",
        "name": "decorin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dcn"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/grhl2"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gsn"
      },
      {
        "slug": "krt12",
        "symbol": "KRT12",
        "name": "keratin 12",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/krt12"
      },
      {
        "slug": "krt3",
        "symbol": "KRT3",
        "name": "keratin 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/krt3"
      },
      {
        "slug": "mcoln1",
        "symbol": "MCOLN1",
        "name": "mucolipin TRP cation channel 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/mcoln1"
      },
      {
        "slug": "nlrp1",
        "symbol": "NLRP1",
        "name": "NLR family pyrin domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/nlrp1"
      },
      {
        "slug": "ovol2",
        "symbol": "OVOL2",
        "name": "ovo like zinc finger 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ovol2"
      },
      {
        "slug": "pikfyve",
        "symbol": "PIKFYVE",
        "name": "phosphoinositide kinase, FYVE-type zinc finger containing",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/pikfyve"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 16,
    "url": "https://dantelabs.com/genes/tcf4/variants",
    "items": [
      {
        "slug": "c-990g-a",
        "name": "c.990G>A",
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        "symbol": "TCF4",
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        "position": 55261466,
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        "part": {
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          "number": 12
        },
        "url": "https://dantelabs.com/genes/tcf4/variants/c-990g-a"
      },
      {
        "slug": "g496c",
        "name": "G496C",
        "commonName": null,
        "symbol": "TCF4",
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        "hgvsC": "c.1486G>T",
        "position": 55234548,
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        "part": {
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          "number": 16
        },
        "url": "https://dantelabs.com/genes/tcf4/variants/g496c"
      },
      {
        "slug": "g592s",
        "name": "G592S",
        "commonName": null,
        "symbol": "TCF4",
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        "hgvsC": "c.1774G>A",
        "position": 55228952,
        "grch37Position": 52896183,
        "part": {
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          "number": 18
        },
        "url": "https://dantelabs.com/genes/tcf4/variants/g592s"
      },
      {
        "slug": "g656rfs55",
        "name": "G656Rfs*55",
        "commonName": null,
        "symbol": "TCF4",
        "classification": "pathogenic",
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        "hgvsC": "c.1965dup",
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        "grch37Position": 52895506,
        "part": {
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        },
        "url": "https://dantelabs.com/genes/tcf4/variants/g656rfs55"
      },
      {
        "slug": "l609p",
        "name": "L609P",
        "commonName": null,
        "symbol": "TCF4",
        "classification": "likely-pathogenic",
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        "position": 55228900,
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        "part": {
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          "number": 18
        },
        "url": "https://dantelabs.com/genes/tcf4/variants/l609p"
      },
      {
        "slug": "q670hfs40",
        "name": "Q670Hfs*40",
        "commonName": null,
        "symbol": "TCF4",
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        "hgvsC": "c.2010_2011del",
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        "part": {
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          "number": 19
        },
        "url": "https://dantelabs.com/genes/tcf4/variants/q670hfs40"
      },
      {
        "slug": "r576q",
        "name": "R576Q",
        "commonName": null,
        "symbol": "TCF4",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1727G>A",
        "position": 55228999,
        "grch37Position": 52896230,
        "part": {
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          "number": 18
        },
        "url": "https://dantelabs.com/genes/tcf4/variants/r576q"
      },
      {
        "slug": "r578h",
        "name": "R578H",
        "commonName": null,
        "symbol": "TCF4",
        "classification": "pathogenic",
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        "hgvsC": "c.1733G>A",
        "position": 55228993,
        "grch37Position": 52896224,
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          "number": 18
        },
        "url": "https://dantelabs.com/genes/tcf4/variants/r578h"
      },
      {
        "slug": "r580q",
        "name": "R580Q",
        "commonName": null,
        "symbol": "TCF4",
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        "position": 55228987,
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        "part": {
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        },
        "url": "https://dantelabs.com/genes/tcf4/variants/r580q"
      },
      {
        "slug": "r580w",
        "name": "R580W",
        "commonName": null,
        "symbol": "TCF4",
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        "position": 55228988,
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        },
        "url": "https://dantelabs.com/genes/tcf4/variants/r580w"
      },
      {
        "slug": "r582c",
        "name": "R582C",
        "commonName": null,
        "symbol": "TCF4",
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        "position": 55228982,
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        "part": {
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          "number": 18
        },
        "url": "https://dantelabs.com/genes/tcf4/variants/r582c"
      },
      {
        "slug": "r639kfs71",
        "name": "R639Kfs*71",
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        "symbol": "TCF4",
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        },
        "url": "https://dantelabs.com/genes/tcf4/variants/r639kfs71"
      },
      {
        "slug": "s253r",
        "name": "S253R",
        "commonName": null,
        "symbol": "TCF4",
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        "hgvsC": "c.759C>G",
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        },
        "url": "https://dantelabs.com/genes/tcf4/variants/s253r"
      },
      {
        "slug": "t606i",
        "name": "T606I",
        "commonName": null,
        "symbol": "TCF4",
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        "hgvsC": "c.1817C>T",
        "position": 55228909,
        "grch37Position": 52896140,
        "part": {
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          "number": 18
        },
        "url": "https://dantelabs.com/genes/tcf4/variants/t606i"
      },
      {
        "slug": "v581f",
        "name": "V581F",
        "commonName": null,
        "symbol": "TCF4",
        "classification": "likely-pathogenic",
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        "hgvsC": "c.1741G>T",
        "position": 55228985,
        "grch37Position": 52896216,
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        },
        "url": "https://dantelabs.com/genes/tcf4/variants/v581f"
      },
      {
        "slug": "w362x",
        "name": "W362X",
        "commonName": null,
        "symbol": "TCF4",
        "classification": "likely-pathogenic",
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        "hgvsC": "c.1086G>A",
        "position": 55257375,
        "grch37Position": 52924606,
        "part": {
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          "number": 14
        },
        "url": "https://dantelabs.com/genes/tcf4/variants/w362x"
      }
    ]
  }
}